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Biological therapies are safer and more effective against psoriasis than conventional treatments. Even so, 30–50% of psoriatic patients show an inadequate response, which is associated with individual genetic heterogeneity. Pharmacogenetic studies have identified several single nucleotide polymorphisms (SNPs) as possible predictive and prognostic biomarkers for psoriasis treatment response. The objective of this study was to determine the link between several SNPs and the clinical response to biological therapies in patients with moderate–severe psoriasis. A set of 21 SNPs related to psoriasis and/or other immunological diseases were selected and analysed from salivary samples of patients (n = 88). Treatment effectiveness and patient improvement was assessed clinically through Relative Psoriasis Area and Severity Index (PASI), also called 'PASI response', as well as absolute PASI. Associations between SNPs and PASI factors were assessed at 3 and 12 months for every treatment category of IL‐17, IL‐23, IL‐12&23 and TNF‐α inhibitors. Multivariate correlation analysis and Fisher's exact test were used to analyse the relationship between SNPs and therapy outcomes. Several SNPs located in the TLR2, TLR5, TIRAP, HLA‐C, IL12B, SLC12A8, TNFAIP3 and PGLYRP4 genes demonstrated association with increased short and long‐term therapy‐effectiveness rates. Most patients achieved values of PASI response ≥75 or absolute PASI<1, regardless of the biological treatment administered. In conclusion, we demonstrate a relationship between different SNPs and both short‐ and especially long‐term effectiveness of biological treatment in terms of PASI. These polymorphisms may be used as predictive markers of treatment response in patients with moderate‐to‐severe psoriasis, providing personalized treatment. [ABSTRACT FROM AUTHOR]

Background: Syphilis is a sexually transmitted infection (STI) caused by the pathogen Treponema pallidum. Its incidence is increasing in our country, especially among men who have sex with men (MSM). Serological tests are still the most widely used technique for diagnosis. The need for an early diagnosis has prompted the introduction of fast techniques, such as Treponema pallidum detection by polymerase chain reaction (PCR) on mucocutaneous samples. The objective of this work is to analyse the sensitivity of this technique in a series of patients diagnosed with syphilis at our centre. Methods: Retrospective review of all cases diagnosed with syphilis at our centre between May 2017 and May 2021. Results: A total of 203 cases of syphilis were diagnosed with serologic tests: 33% were primary syphilis and 53.1% secondary syphilis. PCR for Treponema pallidum was performed in 117 (57,6%) cases. The sensitivity was highest (95,2%) when performed on samples from mucocutaneous ulcers in primary syphilis. This value decreased to 69,4% in secondary syphilis, although there were variations between the types of samples. Conclusions: The PCR test has a high diagnostic value when performed on ulcer exudates in patients with primary syphilis. Its most relevant advantages in clinical practice are the possibility of an early diagnosis before serological tests during the window period, the ability to confirm reinfections in patients with persistent positivity of reaginic antibodies and a history of treated syphilis. Nevertheless, given that a negative PCR test may not rule out infection by Treponema pallidum, serologic tests are still necessary for everyday practice. [ABSTRACT FROM AUTHOR]

Condylomata acuminata (CA), or anogenital warts, is the most common sexually transmitted infection. Treatments for CA generally have suboptimal recurrence rates, which results in a need for repeated treatments and adds to the already negative impact on the patients' quality of life. CA can present at the urethral meatus, which is a particularly challenging anatomic location from a therapeutic perspective. We report two cases of CA at the urethral meatus successfully treated with topical application of high-dose ingenol mebutate gel. [ABSTRACT FROM AUTHOR]

Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MOpatients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsenseEXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG. [ABSTRACT FROM AUTHOR]